/Kostmann syndrome

Kostmann syndrome

Rare Disease

MONDO:0012548

Also Known As

infantile agranulocytosisneutropenia, severe congenital 3, autosomal recessivesevere congenital neutropenia type 3Kostmann diseaseSCN3agranulocytosis infantileagranulocytosis, infantileneutropenia, severe congenital, 3, autosomal recessivesevere congenital neutropenia autosomal recessive 3

Definition

Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients.